Gollop-Wolfgang complex
General Information (adopted from Orphanet):
Synonyms, Signs: |
GOLLOP-WOLFGANG COMPLEX GWC Bifid femur - monodactylous ectrodactyly |
Number of Symptoms | 15 |
OrphanetNr: | 1986 |
OMIM Id: |
228250
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ICD-10: |
Q74.8 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | 200 cases [Orphanet] |
Inheritance: |
Autosomal dominant Autosomal recessive [Orphanet] |
Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Dysostosis with combined reduction defects of upper and lower limbs
-Rare bone disease -Rare developmental defect during embryogenesis Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -Rare bone disease -Rare developmental defect during embryogenesis Syndrome with limb reduction defects -Rare bone disease -Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0010443) | Bifid femur | 2 / 7739 | ||||
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(HPO:0002997) | Abnormality of the ulna | Frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0004058) | Hand monodactyly | 8 / 7739 | ||||
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(HPO:0009380) | Aplasia of the fingers | Very frequent [Orphanet] | 51 / 7739 | |||
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(HPO:0200054) | Foot monodactyly | 6 / 7739 | ||||
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(HPO:0002823) | Abnormality of the femur | Very frequent [Orphanet] | 61 / 7739 | |||
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(HPO:0001171) | Split hand | 72 / 7739 | ||||
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(HPO:0009556) | Absent tibia | 9 / 7739 | ||||
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(HPO:0003982) | Absent ulna | 7 / 7739 | ||||
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(HPO:0002992) | Abnormality of the tibia | Very frequent [Orphanet] | 51 / 7739 | |||
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(OMIM) | Bifurcated femur | 1 / 7739 | ||||
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(OMIM) | Monodactyly of feet | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Ectrodactyly of hand | 2 / 7739 | ||||
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(OMIM) | Monodactyly of hand | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Clinical Description OMIM |
Gollop et al. (1980) described 2 brothers, each with 1 normal upper limb; 1 had tridactylous ectrodactyly of 1 hand with normal radius and ulna, and the other had monodactyly of 1 hand with absent ulna. Both had ... |